The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study.

IF 5.6 2区生物学 International Journal of Molecular Sciences Pub Date : 2024-10-09 DOI:10.3390/ijms251910826

Marika Giuliano, Sandro Santa Paola, Eugenia Borgione, Mariangela Lo Giudice, Francesco Domenico Di Blasi, Rosa Pettinato, Corrado Romano, Carmela Scuderi

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Abstract

The loss of one of the two copies of the 9 bp tandem repeat sequence (CCCCCTCTA) located in the small non-coding region between the cytochrome oxidase II (COII) and the lysine tRNA genes in human mtDNA has been reported to be polymorphic in Asian, Oceanian and Sub-Saharan African populations, but it has rarely been observed in Europe. In this study, we will evaluate the possible association between the MIC9D polymorphism and cognitive disorders. A genetic analysis of unrelated Sicilian patients with cognitive deficits was performed to identify the 9 bp deletion MIC9D polymorphism. The MIC9D polymorphism was found in six patients, whereas this variant was absent in control individuals without cognitive deficits. The patients with the MIC9D polymorphism exhibited more complex clinical presentations; in particular, all had neuromuscular disorders and five also presented with behavioral disorders. The present study suggests a potential association between the MIC9D polymorphism and cognitive impairment with concurrent neuromuscular and behavioral involvement.

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据报道，位于人类 mtDNA 中细胞色素氧化酶 II（COII）和赖氨酸 tRNA 基因之间的小非编码区的 9 bp 串联重复序列（CCCCCTCTA）的两个拷贝之一的缺失在亚洲、大洋洲和撒哈拉以南非洲人群中存在多态性，但在欧洲却很少观察到。在本研究中，我们将评估 MIC9D 多态性与认知障碍之间可能存在的关联。我们对无亲属关系的西西里认知障碍患者进行了基因分析，以确定 9 bp 缺失的 MIC9D 多态性。在六名患者中发现了 MIC9D 多态性，而在没有认知障碍的对照组中则没有发现这种变异。具有 MIC9D 多态性的患者表现出更复杂的临床表现，尤其是所有患者都患有神经肌肉疾病，其中五人还伴有行为障碍。本研究表明，MIC9D 多态性与同时伴有神经肌肉和行为障碍的认知障碍之间可能存在关联。

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来源期刊

International Journal of Molecular Sciences 化学-化学综合

自引率

10.70%

发文量

13472

审稿时长

1.7 months

期刊介绍： The International Journal of Molecular Sciences (ISSN 1422-0067) provides an advanced forum for chemistry, molecular physics (chemical physics and physical chemistry) and molecular biology. It publishes research articles, reviews, communications and short notes. Our aim is to encourage scientists to publish their theoretical and experimental results in as much detail as possible. Therefore, there is no restriction on the length of the papers or the number of electronics supplementary files. For articles with computational results, the full experimental details must be provided so that the results can be reproduced. Electronic files regarding the full details of the calculation and experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material (including animated pictures, videos, interactive Excel sheets, software executables and others).